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ASCL1 Gene Central hypoventilation syndrome, congenital NGS Genetic Test

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ASCL1 Gene Central hypoventilation syndrome, congenital NGS Genetic Test

Short Name: ASCL1 Gene CHS NGS Test

Also known as: Congenital Central Hypoventilation Syndrome, CHS Type 2, Ondine's Curse

ASCL1 Gene Central hypoventilation syndrome, congenital NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic TestPediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 3, 2026

Overview

The purpose of the ASCL1 Gene Central Hypoventilation Syndrome NGS Genetic Test is to identify mutations in the ASCL1 gene that cause CHS type 2, enabling accurate diagnosis, genetic counseling, and informed management decisions.

Test Code
5696
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation required. Provide clinical history and undergo genetic counseling.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture or using an FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling to understand the test implications.
2
During the Test:A blood sample is collected for DNA extraction and NGS analysis.
3
After the Test:Results are available in 3 to 4 weeks. Follow up with a healthcare provider for interpretation.

About This Test

Who Should Get This Test

The purpose of the ASCL1 Gene Central Hypoventilation Syndrome NGS Genetic Test is to identify mutations in the ASCL1 gene that cause CHS type 2, enabling accurate diagnosis, genetic counseling, and informed management decisions.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile collection techniques
  • Label samples correctly

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early genetic testing for ASCL1 mutations is crucial for diagnosing Central Hypoventilation Syndrome, enabling timely intervention and improved patient outcomes."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA Card

Sample Stability

Blood samples stable at room temperature for 24 hours
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of mutations in the ASCL1 gene associated with Central Hypoventilation Syndrome.
📊

Mutation Detected

Confirms diagnosis of CHS type 2; genetic counseling recommended.

📊

No Mutation Detected

ASCL1-related CHS unlikely; consider other genetic or non-genetic causes.

⚠️ When to Consult a Doctor:

Consult a doctor if symptoms such as breathing difficulties during sleep, low oxygen levels, or developmental delays persist or worsen.

Limitations

  • ⚠May not detect all genetic variants; clinical correlation is essential
  • ⚠Results should be interpreted by a qualified geneticist

Risks & Considerations

  • ●Minor pain or bruising at the blood draw site
  • ●Rare risk of infection

Interfering Factors

  • ●Hemolyzed samples may affect DNA quality
  • ●Contaminated samples can lead to inaccurate results

Frequently Asked Questions

What is Central Hypoventilation Syndrome (CHS)?
CHS is a rare genetic disorder characterized by abnormal breathing patterns during sleep, leading to low oxygen and high carbon dioxide levels in the blood.
What is the ASCL1 gene?
ASCL1 is a gene that provides instructions for a protein involved in developing neurons that control breathing and heart rate.
How is CHS diagnosed?
CHS is diagnosed through medical history, physical examination, blood tests, and genetic testing like NGS to identify ASCL1 mutations.
What does the NGS genetic test involve?
The test uses next-generation sequencing to analyze the ASCL1 gene for mutations from a blood or DNA sample.
What is the cost of the ASCL1 Gene CHS NGS Test?
The test costs INR 20000.0, with home sample collection available across India.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings in numerous cities across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What are the symptoms of CHS?
Symptoms include difficulty breathing during sleep, irregular breathing patterns, low oxygen levels, high carbon dioxide levels, daytime sleepiness, and difficulty swallowing.
Is CHS hereditary?
CHS type 2 caused by ASCL1 mutations is usually inherited in an autosomal dominant pattern, but can also occur sporadically.
What treatments are available for CHS?
There is no cure; treatment focuses on managing symptoms with assisted ventilation during sleep and supportive therapies.
Can CHS be cured?
Currently, there is no cure for CHS, but early diagnosis and management can improve quality of life.
Who should consider this test?
Individuals with symptoms of CHS, a family history of the disorder, or those recommended by a healthcare provider should consider this test.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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